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2. Copy number variations residing outside the SHOX enhancer region are involved in Short Stature and Léri‐Weill dyschondrosteosis. Issue 1 (23rd November 2021)

3. Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort. (6th August 2015)

4. Identification and functional characterization of a novel splicing variant in the F8 coagulation gene causing severe hemophilia A. (29th April 2020)

9. Novel GLI2 mutations identified in patients with Combined Pituitary Hormone Deficiency (CPHD): Evidence for a pathogenic effect by functional characterization. (7th January 2019)